Difference between revisions of "MUTYH polyposis syndrome"

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[[Image:Tubular adenoma in MUTYH polyposis -- low mag.jpg|thumb|[[Colorectal tubular adenoma]] in MUTYH polyposis. [[H&E stain]].]]
'''MUTYH polyposis syndrome''', also '''MYH polyposis syndrome''', is an autosomal recessive syndrome characterized by numerous polyps and an increased risk of [[colorectal carcinoma]].<ref name=omim604933>{{OMIM|604933}}</ref>
'''MUTYH polyposis syndrome''', also '''MYH polyposis syndrome''', is an autosomal recessive syndrome characterized by numerous polyps and an increased risk of [[colorectal carcinoma]].<ref name=omim604933>{{OMIM|604933}}</ref>


The ''MUTYH gene'' is a mismatch repair gene.  Mutations lead to defective base excision repair - specifically, more transversions.<ref name=omim604933/>
The ''MUTYH gene'' is a mismatch repair gene.  Mutations lead to defective base excision repair - specifically, more transversions.<ref name=omim604933/>
==Microscopic==
Features:
*Commonly manifest as a mix of:<ref name=pmid19013464>{{Cite journal  | last1 = Boparai | first1 = KS. | last2 = Dekker | first2 = E. | last3 = Van Eeden | first3 = S. | last4 = Polak | first4 = MM. | last5 = Bartelsman | first5 = JF. | last6 = Mathus-Vliegen | first6 = EM. | last7 = Keller | first7 = JJ. | last8 = van Noesel | first8 = CJ. | title = Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis. | journal = Gastroenterology | volume = 135 | issue = 6 | pages = 2014-8 | month = Dec | year = 2008 | doi = 10.1053/j.gastro.2008.09.020 | PMID = 19013464 }}</ref>
**[[Hyperplastic polyp]].
**[[Sessile serrated adenoma]].
**[[Adenomatous polyps]].<ref name=omim604933>{{OMIM|604933}}</ref>
DDx:
*[[Familial adenomatous polyposis]].
*[[Serrated polyposis syndrome]].
Note:
*The histomorphology of the polyps in the syndrome are not distinctive from sporadic ones.


==See also==
==See also==
*[[Colorectal carcinoma]].
*[[Familial adenomatous polyposis]].
*[[Familial adenomatous polyposis]].
*[[Hyperplastic polyposis syndrome]].
*[[Intestinal polyposis]].


==References==
==References==
Line 10: Line 28:


==External links==
==External links==
*[http://journal.nzma.org.nz/journal/121-1287/3419/
*[http://journal.nzma.org.nz/journal/121-1287/3419/ MYH-associated polyposis—a new familial colorectal cancer syndrome without a family history (nzma.org.nz)].
MYH-associated polyposis—a new familial colorectal cancer syndrome without a family history (nzma.org.nz)].


[[Category:Syndromes]]
[[Category:Syndromes]]
[[Category:Gastrointestinal pathology]]

Latest revision as of 01:57, 25 March 2019

MUTYH polyposis syndrome, also MYH polyposis syndrome, is an autosomal recessive syndrome characterized by numerous polyps and an increased risk of colorectal carcinoma.[1]

The MUTYH gene is a mismatch repair gene. Mutations lead to defective base excision repair - specifically, more transversions.[1]

Microscopic

Features:

DDx:

Note:

  • The histomorphology of the polyps in the syndrome are not distinctive from sporadic ones.

See also

References

  1. 1.0 1.1 1.2 Online 'Mendelian Inheritance in Man' (OMIM) 604933
  2. Boparai, KS.; Dekker, E.; Van Eeden, S.; Polak, MM.; Bartelsman, JF.; Mathus-Vliegen, EM.; Keller, JJ.; van Noesel, CJ. (Dec 2008). "Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis.". Gastroenterology 135 (6): 2014-8. doi:10.1053/j.gastro.2008.09.020. PMID 19013464.

External links